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GENATLAS PHENOTYPE
last update : 19-11-2013
Symbol IMEI
Location 16p13.3
Name idiopathic myoclonic epilepsy of infancy
Other name(s)
  • myoclonic epilepsy, infantile
  • myoclonic epilepsy, infantile, familial
  • Corresponding gene TBC1D24
    Other symbol(s) EIM, FIME
    Main clinical features
  • characterized by myoclonic seizures, febrile convulsions, generalized tonic-clonic seizures of moderate severity
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)